Associated Papers
Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.
Wakabayashi T et al.
Journal of Atherosclerosis and Thrombosis, 2024
Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
Dron JS et al.
Jama Cardiology, 2023
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote.
Hooper AJ et al.
Clinical Biochemistry, 2016
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Cryptogenic cirrhosis in a patient with familial hypocholesterolemia due to a new truncated form of apolipoprotein B.
Bonnefont-Rousselot D et al.
European Journal of Gastroenterology & Hepatology, 2009
Liver dysfunction and steatosis in familial hypobetalipoproteinemia.
Whitfield AJ et al.
Clinical Chemistry, 2005
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia.
Whitfield AJ et al.
Human Mutation, 2003
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